Correlation Analyses of Clinical Manifestations and Variant Effects in KCNB1-Related Neurodevelopmental Disorder

• Main Authors: Juan Xiong (Author), Zhonghua Liu (Author), Shimeng Chen (Author), Miriam Kessi (Author), Baiyu Chen (Author), Haolin Duan (Author), Xiaolu Deng (Author), Lifen Yang (Author), Jing Peng (Author), Fei Yin (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective:Vitro functional analyses of KCNB1 variants have been done to disclose possible pathogenic mechanisms in KCNB1-related neurodevelopmental disorder. "Complete or partial loss of function (LoF)," "dominant-negative (DN) effect" are applied to describe KCNB1 variant's...